6356[geneid] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60139	GRCh38/hg38 17q12(chr17:33642695-34549211)x3	ASIC2, CCL1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 150096	GRCh38/hg38 17q12(chr17:33671097-34595982)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 146705	GRCh38/hg38 17q12(chr17:33777728-34301601)x3	ASIC2, CCL11 +16 more	Copy number gain	See cases	GUncertain significance
Select item 8368	NC_000017.11:g.34274816GAGAAG[9]	CCL11	Microsatellite	Inherited susceptibility to asthma	Grisk factor
Select item 8367	NC_000017.11:g.34284427=	CCL11	Single nucleotide variant	Susceptibility to HIV infection	Gprotective
Select item 3139707	NM_002986.3(CCL11):c.47C>T (p.Ala16Val)	CCL11 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400427	NM_002986.3(CCL11):c.56C>A (p.Pro19His)	CCL11 (P19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059737	NM_002986.3(CCL11):c.67G>A (p.Ala23Thr)	CCL11 (A23T)	Single nucleotide variant (missense variant)	CCL11-related condition	GBenign
Select item 3038823	NM_002986.3(CCL11):c.84C>G (p.Val28=)	CCL11	Single nucleotide variant (synonymous variant)	CCL11-related condition	GLikely benign
Select item 2609064	NM_002986.3(CCL11):c.119A>T (p.Lys40Met)	CCL11 (K40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139706	NM_002986.3(CCL11):c.124C>A (p.Pro42Thr)	CCL11 (P42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547455	NM_002986.3(CCL11):c.206C>A (p.Ala69Asp)	CCL11 (A69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515496	NM_002986.3(CCL11):c.227C>A (p.Pro76His)	CCL11 (P76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777159	NM_002986.3(CCL11):c.257A>C (p.Lys86Thr)	CCL11 (K86T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526576	GRCh37/hg19 17q12(chr17:31959226-32937658)	ASIC2, CCL1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685761	GRCh37/hg19 17q12(chr17:31957257-32944153)x3	ASIC2, CCL1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 442056	GRCh37/hg19 17q12(chr17:31958240-32937658)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 441921	GRCh37/hg19 17q12(chr17:32064314-32643063)x3	ASIC2, CCL11 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 394456	GRCh37/hg19 17q12(chr17:31982779-32917705)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 26